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Nsun2 Gene Detail
Summary
  • Symbol
    Nsun2
  • Name
    NOL1/NOP2/Sun domain family member 2
  • Synonyms
    Misu
  • Feature Type
    protein coding gene
  • IDs
    MGI:107252
    NCBI Gene: 28114
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:69760135-69783899 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 35.55 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    753 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107252
 protein coding gene Chr13:69681865-69783899 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020732
 protein coding gene Chr13:69799165-69911350 (+)
A/J MGP_AJ_G0020688
 protein coding gene Chr13:67305861-67409916 (+)
AKR/J MGP_AKRJ_G0020663
 protein coding gene Chr13:69527450-69632723 (+)
BALB/cJ MGP_BALBcJ_G0020685
 protein coding gene Chr13:67840549-67943115 (+)
C3H/HeJ MGP_C3HHeJ_G0020480
 protein coding gene Chr13:69188523-69300326 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021122
 protein coding gene Chr13:72197915-72310878 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018690
 protein coding gene Chr13:64277126-64376760 (+)
CAST/EiJ MGP_CASTEiJ_G0019997
 protein coding gene Chr13:68184749-68294219 (+)
CBA/J MGP_CBAJ_G0020438
 protein coding gene Chr13:74976447-75085588 (+)
DBA/2J MGP_DBA2J_G0020564
 protein coding gene Chr13:67208989-67312696 (+)
FVB/NJ MGP_FVBNJ_G0020544
 protein coding gene Chr13:66210995-66316146 (+)
LP/J MGP_LPJ_G0020636
 protein coding gene Chr13:70082308-70196272 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020572
 protein coding gene Chr13:73426205-73539038 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021161
 protein coding gene Chr13:68804931-68907401 (+)
PWK/PhJ MGP_PWKPhJ_G0019751
 protein coding gene Chr13:65907741-66010431 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019574
 protein coding gene Chr13:65292027-65405250 (+)
WSB/EiJ MGP_WSBEiJ_G0020054
 protein coding gene Chr13:69289957-69404499 (+)



Homology
more
  • Human Ortholog
    NSUN2, NOP2/Sun RNA methyltransferase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NSUN2, NOP2/Sun RNA methyltransferase 2
  • Synonyms
    MISU, MRT5, SAKI, TRM4
  • Links
    NCBI Gene ID: 54888
    neXtProt AC: NX_Q08J23
    UniProt: Q08J23

  • Chr Location
    5p15.31; chr5:6599239-6633291 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human NSUN2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    87 phenotypes from 3 alleles in 8 genetic backgrounds
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous inactivation of this gene leads to decreased body size, male sterility, and hair cycle anomalies. Additional phenotypes may include reduced body fat, skeletal, craniofacial and eye defects, abnormal erythropoiesis, and altered energy expenditure and gas, glucose, and lipid homeostasis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    830
  • Tissues
    53
  • cDNA Data
    19
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 28114 NCBI Gene Model | MGI Sequence Detail 23765 C57BL/6J ±  kb
    transcript NM_145354 RefSeq | MGI Sequence Detail 4280 ZRU/MplStud  
    polypeptide Q1HFZ0 UniProt | EBI | MGI Sequence Detail 757 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000011450 RNA cytosine C(5)-methyltransferase NSUN2
      (term hierarchy)
    • EC
      2.1.1.-, 2.1.1.203
    • InterPro Domains
      IPR023267 RNA (C5-cytosine) methyltransferase
      IPR029063 S-adenosyl-L-methionine-dependent methyltransferase superfamily
      IPR049560 SAM-dependent methyltransferase RsmB-F/NOP2-type, catalytic core
      IPR001678 SAM-dependent methyltransferase RsmB-F/NOP2-type domain
      IPR023270 tRNA (C5-cytosine) methyltransferase, NCL1
    • GlyGen
      Q1HFZ0 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 19
      Primer pair 2

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-35717
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 6
      Gene Ontology 13
      Phenotypes 31
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory